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MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism

Introduction: Congenital hypothyroidism can be caused by aplasia or hypoplasia of the thyroid gland, ectopic thyroid, or dyshormonogenesis. Thyroid function test, thyroid ultrasonography, and thyroid scintigraphy may be helpful in diagnosis. Molecular genetic approach can be used to identify the gen...

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Detalles Bibliográficos
Publicado en:J Endocr Soc
Main Authors: Kim, Jisun, Jang, Ja-Hyun, Yu, Jeesuk
Formato: Artigo
Idioma:Inglês
Publicado: Endocrine Society 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6551082/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-MON-270
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